A novel mutation of SERPINC1 in a patient presenting as recurrent cerebral sinus venous and portal vein thrombosis

被引：3
作者：
Teng, Xin-Yi [1 ,2 ]
Han, Yu [1 ,2 ]
Yin, Li [1 ]
Xu, Fang-Fang [3 ]
Liu, Zhen-Jie [1 ]
机构：
[1] Zhejiang Univ, Sch Med, Dept Vasc Surg, Affiliated Hosp 2, Hangzhou 310009, Peoples R China
[2] Zhejiang Univ, Sch Med, Dept Clin Med, Hangzhou, Peoples R China
[3] Zhejiang Univ, Sch Med, Dept Radiol, Affiliated Hosp 2, Hangzhou, Peoples R China
来源：
BLOOD COAGULATION & FIBRINOLYSIS | 2020年 / 31卷 / 03期
基金：
中国国家自然科学基金;
关键词：
antithrombin deficiency; SERPINC1; venous thrombosis; ANTITHROMBIN DEFICIENCY; RISK; THROMBOEMBOLISM; ISSUES;
D O I：
10.1097/MBC.0000000000000893
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Inherited antithrombin deficiency (OMIM 107300) is a rare autosomal dominant disorder that could increase the risk of venous thromboembolism and is usually caused by mutations ofSERPINC1. Herein, we present a case of a novel mutation in theSERPINC1gene in a Chinese patient. The patient was a 54-year-old man who presented with recurrent venous thromboembolism and was without a recent history of any precipitating factors. Whole exome sequencing and Sanger sequencing identified a novel heterozygous variant on exon 2 ofSERPINC1gene (c.142G>A, p.P48S).
引用
收藏
页码：229 / 232
页数：4
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